Symptoms of Niemann-Pick Type C Disease

Type C is the most variable form of the Niemann-Pick disease.

Symptoms may appear and then disappear. Some symptoms may never appear. The rate of progression of the disease is different from person to person and will change over time.

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  • jaundice at (or shortly after) birth

  • an enlarged spleen and/or liver (hepatosplenamegaly)

  • Difficulty with upward and downward eye movements (Vertical Supranuclear Gaze Palsy).

  • Difficulty in posturing of limbs (dystonia)

  • Unsteadiness of gait, clumsiness, problems in walking (ataxia)

  • Slurred, irregular speech (dysarthria)

  • Tremors accompanying movement and, in some cases, seizures

  • Learning difficulties and progressive intellectual decline (Cognitive dysfunction – “dementia”)

  • Psychological problems

  • Sudden loss of muscle tone which may lead to falls (cataplexy)

  • Loss of the ability to speak

  • Loss of the ability to move facial muscles or swallow

    • making feeding through a stomach tube necessary​

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